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First Case of Peroxisomal D-bifunctional Protein Deficiency with Novel HSD17B4 Mutations and Progressive Neuropathy in Korea
Peroxisomal D-bifunctional protein (DBP), encoded by the HSD17B4 gene, catalyzes β-oxidation of very long chain fatty acids (VLCFAs). The deficiency of this peroxisomal enzyme leads to the accumulation of VLCFAs, causing multisystemic manifestations including the brain, retina, adrenal gland, hearin...
Autores principales: | Bae, Eun Young, Yi, Yoonyoung, Lim, Han Hyuk, Lee, Jiwon M., Lee, Bongjin, Kim, Seung Yeon, Kim, Yoo-Mi |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Korean Academy of Medical Sciences
2020
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7550233/ https://www.ncbi.nlm.nih.gov/pubmed/33045774 http://dx.doi.org/10.3346/jkms.2020.35.e357 |
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